Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.101del (p.Pro34fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.101del (p.Pro34fs)
Variation ID: 54103 Accession: VCV000054103.5
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43115759 (GRCh38) [ NCBI UCSC ] 17: 41267776 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 May 1, 2024 Sep 8, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.101del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro34fs frameshift NM_001407571.1:c.-89delC NM_001407581.1:c.100delC NP_001394510.1:p.Pro34Leufs frameshift NM_001407582.1:c.100delC NP_001394511.1:p.Pro34Leufs frameshift NM_001407583.1:c.100delC NP_001394512.1:p.Pro34Leufs frameshift NM_001407585.1:c.100delC NP_001394514.1:p.Pro34Leufs frameshift NM_001407587.1:c.100delC NP_001394516.1:p.Pro34Leufs frameshift NM_001407590.1:c.100delC NP_001394519.1:p.Pro34Leufs frameshift NM_001407591.1:c.100delC NP_001394520.1:p.Pro34Leufs frameshift NM_001407593.1:c.100delC NP_001394522.1:p.Pro34Leufs frameshift NM_001407594.1:c.100delC NP_001394523.1:p.Pro34Leufs frameshift NM_001407596.1:c.100delC NP_001394525.1:p.Pro34Leufs frameshift NM_001407597.1:c.100delC NP_001394526.1:p.Pro34Leufs frameshift NM_001407598.1:c.100delC NP_001394527.1:p.Pro34Leufs frameshift NM_001407602.1:c.100delC NP_001394531.1:p.Pro34Leufs frameshift NM_001407603.1:c.100delC NP_001394532.1:p.Pro34Leufs frameshift NM_001407605.1:c.100delC NP_001394534.1:p.Pro34Leufs frameshift NM_001407610.1:c.100delC NP_001394539.1:p.Pro34Leufs frameshift NM_001407611.1:c.100delC NP_001394540.1:p.Pro34Leufs frameshift NM_001407612.1:c.100delC NP_001394541.1:p.Pro34Leufs frameshift NM_001407613.1:c.100delC NP_001394542.1:p.Pro34Leufs frameshift NM_001407614.1:c.100delC NP_001394543.1:p.Pro34Leufs frameshift NM_001407615.1:c.100delC NP_001394544.1:p.Pro34Leufs frameshift NM_001407616.1:c.100delC NP_001394545.1:p.Pro34Leufs frameshift NM_001407617.1:c.100delC NP_001394546.1:p.Pro34Leufs frameshift NM_001407618.1:c.100delC NP_001394547.1:p.Pro34Leufs frameshift NM_001407619.1:c.100delC NP_001394548.1:p.Pro34Leufs frameshift NM_001407620.1:c.100delC NP_001394549.1:p.Pro34Leufs frameshift NM_001407621.1:c.100delC NP_001394550.1:p.Pro34Leufs frameshift NM_001407622.1:c.100delC NP_001394551.1:p.Pro34Leufs frameshift NM_001407623.1:c.100delC NP_001394552.1:p.Pro34Leufs frameshift NM_001407624.1:c.100delC NP_001394553.1:p.Pro34Leufs frameshift NM_001407625.1:c.100delC NP_001394554.1:p.Pro34Leufs frameshift NM_001407626.1:c.100delC NP_001394555.1:p.Pro34Leufs frameshift NM_001407627.1:c.100delC NP_001394556.1:p.Pro34Leufs frameshift NM_001407628.1:c.100delC NP_001394557.1:p.Pro34Leufs frameshift NM_001407629.1:c.100delC NP_001394558.1:p.Pro34Leufs frameshift NM_001407630.1:c.100delC NP_001394559.1:p.Pro34Leufs frameshift NM_001407631.1:c.100delC NP_001394560.1:p.Pro34Leufs frameshift NM_001407632.1:c.100delC NP_001394561.1:p.Pro34Leufs frameshift NM_001407633.1:c.100delC NP_001394562.1:p.Pro34Leufs frameshift NM_001407634.1:c.100delC NP_001394563.1:p.Pro34Leufs frameshift NM_001407635.1:c.100delC NP_001394564.1:p.Pro34Leufs frameshift NM_001407636.1:c.100delC NP_001394565.1:p.Pro34Leufs frameshift NM_001407637.1:c.100delC NP_001394566.1:p.Pro34Leufs frameshift NM_001407638.1:c.100delC NP_001394567.1:p.Pro34Leufs frameshift NM_001407639.1:c.100delC NP_001394568.1:p.Pro34Leufs frameshift NM_001407640.1:c.100delC NP_001394569.1:p.Pro34Leufs frameshift NM_001407641.1:c.100delC NP_001394570.1:p.Pro34Leufs frameshift NM_001407642.1:c.100delC NP_001394571.1:p.Pro34Leufs frameshift NM_001407644.1:c.100delC NP_001394573.1:p.Pro34Leufs frameshift NM_001407645.1:c.100delC NP_001394574.1:p.Pro34Leufs frameshift NM_001407646.1:c.100delC NP_001394575.1:p.Pro34Leufs frameshift NM_001407647.1:c.100delC NP_001394576.1:p.Pro34Leufs frameshift NM_001407648.1:c.100delC NP_001394577.1:p.Pro34Leufs frameshift NM_001407649.1:c.100delC NP_001394578.1:p.Pro34Leufs frameshift NM_001407652.1:c.100delC NP_001394581.1:p.Pro34Leufs frameshift NM_001407653.1:c.100delC NP_001394582.1:p.Pro34Leufs frameshift NM_001407654.1:c.100delC NP_001394583.1:p.Pro34Leufs frameshift NM_001407655.1:c.100delC NP_001394584.1:p.Pro34Leufs frameshift NM_001407656.1:c.100delC NP_001394585.1:p.Pro34Leufs frameshift NM_001407657.1:c.100delC NP_001394586.1:p.Pro34Leufs frameshift NM_001407658.1:c.100delC NP_001394587.1:p.Pro34Leufs frameshift NM_001407659.1:c.100delC NP_001394588.1:p.Pro34Leufs frameshift NM_001407660.1:c.100delC NP_001394589.1:p.Pro34Leufs frameshift NM_001407661.1:c.100delC NP_001394590.1:p.Pro34Leufs frameshift NM_001407662.1:c.100delC NP_001394591.1:p.Pro34Leufs frameshift NM_001407663.1:c.100delC NP_001394592.1:p.Pro34Leufs frameshift NM_001407664.1:c.100delC NP_001394593.1:p.Pro34Leufs frameshift NM_001407665.1:c.100delC NP_001394594.1:p.Pro34Leufs frameshift NM_001407666.1:c.100delC NP_001394595.1:p.Pro34Leufs frameshift NM_001407667.1:c.100delC NP_001394596.1:p.Pro34Leufs frameshift NM_001407668.1:c.100delC NP_001394597.1:p.Pro34Leufs frameshift NM_001407669.1:c.100delC NP_001394598.1:p.Pro34Leufs frameshift NM_001407670.1:c.100delC NP_001394599.1:p.Pro34Leufs frameshift NM_001407671.1:c.100delC NP_001394600.1:p.Pro34Leufs frameshift NM_001407672.1:c.100delC NP_001394601.1:p.Pro34Leufs frameshift NM_001407673.1:c.100delC NP_001394602.1:p.Pro34Leufs frameshift NM_001407674.1:c.100delC NP_001394603.1:p.Pro34Leufs frameshift NM_001407675.1:c.100delC NP_001394604.1:p.Pro34Leufs frameshift NM_001407676.1:c.100delC NP_001394605.1:p.Pro34Leufs frameshift NM_001407677.1:c.100delC NP_001394606.1:p.Pro34Leufs frameshift NM_001407678.1:c.100delC NP_001394607.1:p.Pro34Leufs frameshift NM_001407679.1:c.100delC NP_001394608.1:p.Pro34Leufs frameshift NM_001407680.1:c.100delC NP_001394609.1:p.Pro34Leufs frameshift NM_001407681.1:c.100delC NP_001394610.1:p.Pro34Leufs frameshift NM_001407682.1:c.100delC NP_001394611.1:p.Pro34Leufs frameshift NM_001407683.1:c.100delC NP_001394612.1:p.Pro34Leufs frameshift NM_001407684.1:c.100delC NP_001394613.1:p.Pro34Leufs frameshift NM_001407685.1:c.100delC NP_001394614.1:p.Pro34Leufs frameshift NM_001407686.1:c.100delC NP_001394615.1:p.Pro34Leufs frameshift NM_001407687.1:c.100delC NP_001394616.1:p.Pro34Leufs frameshift NM_001407688.1:c.100delC NP_001394617.1:p.Pro34Leufs frameshift NM_001407689.1:c.100delC NP_001394618.1:p.Pro34Leufs frameshift NM_001407690.1:c.100delC NP_001394619.1:p.Pro34Leufs frameshift NM_001407691.1:c.100delC NP_001394620.1:p.Pro34Leufs frameshift NM_001407694.1:c.-158delC NM_001407695.1:c.-162delC NM_001407696.1:c.-158delC NM_001407697.1:c.-42delC NM_001407724.1:c.-158delC NM_001407725.1:c.-42delC NM_001407727.1:c.-158delC NM_001407728.1:c.-42delC NM_001407729.1:c.-42delC NM_001407730.1:c.-42delC NM_001407731.1:c.-158delC NM_001407733.1:c.-158delC NM_001407734.1:c.-42delC NM_001407735.1:c.-42delC NM_001407737.1:c.-42delC NM_001407739.1:c.-42delC NM_001407740.1:c.-42delC NM_001407741.1:c.-42delC NM_001407743.1:c.-42delC NM_001407745.1:c.-42delC NM_001407746.1:c.-158delC NM_001407748.1:c.-42delC NM_001407749.1:c.-158delC NM_001407752.1:c.-42delC NM_001407838.1:c.-42delC NM_001407839.1:c.-42delC NM_001407841.1:c.-38delC NM_001407842.1:c.-158delC NM_001407843.1:c.-158delC NM_001407844.1:c.-42delC NM_001407846.1:c.-42delC NM_001407847.1:c.-42delC NM_001407848.1:c.-42delC NM_001407850.1:c.-42delC NM_001407851.1:c.-42delC NM_001407853.1:c.-89delC NM_001407854.1:c.100delC NP_001394783.1:p.Pro34Leufs frameshift NM_001407858.1:c.100delC NP_001394787.1:p.Pro34Leufs frameshift NM_001407859.1:c.100delC NP_001394788.1:p.Pro34Leufs frameshift NM_001407860.1:c.100delC NP_001394789.1:p.Pro34Leufs frameshift NM_001407861.1:c.100delC NP_001394790.1:p.Pro34Leufs frameshift NM_001407862.1:c.100delC NP_001394791.1:p.Pro34Leufs frameshift NM_001407863.1:c.100delC NP_001394792.1:p.Pro34Leufs frameshift NM_001407874.1:c.100delC NP_001394803.1:p.Pro34Leufs frameshift NM_001407875.1:c.100delC NP_001394804.1:p.Pro34Leufs frameshift NM_001407879.1:c.-89delC NM_001407882.1:c.-89delC NM_001407884.1:c.-89delC NM_001407885.1:c.-89delC NM_001407886.1:c.-89delC NM_001407887.1:c.-89delC NM_001407889.1:c.-205delC NM_001407894.1:c.-89delC NM_001407895.1:c.-89delC NM_001407896.1:c.-89delC NM_001407897.1:c.-89delC NM_001407899.1:c.-89delC NM_001407900.1:c.-205delC NM_001407904.1:c.-89delC NM_001407906.1:c.-89delC NM_001407907.1:c.-89delC NM_001407908.1:c.-89delC NM_001407909.1:c.-89delC NM_001407910.1:c.-89delC NM_001407915.1:c.-89delC NM_001407916.1:c.-89delC NM_001407917.1:c.-89delC NM_001407918.1:c.-89delC NM_001407919.1:c.100delC NP_001394848.1:p.Pro34Leufs frameshift NM_001407920.1:c.-42delC NM_001407921.1:c.-42delC NM_001407922.1:c.-42delC NM_001407923.1:c.-42delC NM_001407926.1:c.-42delC NM_001407927.1:c.-42delC NM_001407930.1:c.-158delC NM_001407933.1:c.-42delC NM_001407934.1:c.-42delC NM_001407935.1:c.-42delC NM_001407937.1:c.100delC NP_001394866.1:p.Pro34Leufs frameshift NM_001407938.1:c.100delC NP_001394867.1:p.Pro34Leufs frameshift NM_001407939.1:c.100delC NP_001394868.1:p.Pro34Leufs frameshift NM_001407940.1:c.100delC NP_001394869.1:p.Pro34Leufs frameshift NM_001407941.1:c.100delC NP_001394870.1:p.Pro34Leufs frameshift NM_001407942.1:c.-158delC NM_001407943.1:c.-42delC NM_001407944.1:c.-42delC NM_001407946.1:c.-89delC NM_001407947.1:c.-89delC NM_001407948.1:c.-89delC NM_001407949.1:c.-89delC NM_001407950.1:c.-89delC NM_001407951.1:c.-89delC NM_001407952.1:c.-89delC NM_001407953.1:c.-89delC NM_001407954.1:c.-89delC NM_001407955.1:c.-89delC NM_001407956.1:c.-89delC NM_001407957.1:c.-89delC NM_001407958.1:c.-89delC NM_001407960.1:c.-204delC NM_001407962.1:c.-204delC NM_001407964.1:c.-42delC NM_001407965.1:c.-320delC NM_001407968.1:c.100delC NP_001394897.1:p.Pro34Leufs frameshift NM_001407969.1:c.100delC NP_001394898.1:p.Pro34Leufs frameshift NM_001407970.1:c.100delC NP_001394899.1:p.Pro34Leufs frameshift NM_001407971.1:c.100delC NP_001394900.1:p.Pro34Leufs frameshift NM_001407972.1:c.100delC NP_001394901.1:p.Pro34Leufs frameshift NM_001407973.1:c.100delC NP_001394902.1:p.Pro34Leufs frameshift NM_001407974.1:c.100delC NP_001394903.1:p.Pro34Leufs frameshift NM_001407975.1:c.100delC NP_001394904.1:p.Pro34Leufs frameshift NM_001407976.1:c.100delC NP_001394905.1:p.Pro34Leufs frameshift NM_001407977.1:c.100delC NP_001394906.1:p.Pro34Leufs frameshift NM_001407978.1:c.100delC NP_001394907.1:p.Pro34Leufs frameshift NM_001407979.1:c.100delC NP_001394908.1:p.Pro34Leufs frameshift NM_001407980.1:c.100delC NP_001394909.1:p.Pro34Leufs frameshift NM_001407981.1:c.100delC NP_001394910.1:p.Pro34Leufs frameshift NM_001407982.1:c.100delC NP_001394911.1:p.Pro34Leufs frameshift NM_001407983.1:c.100delC NP_001394912.1:p.Pro34Leufs frameshift NM_001407984.1:c.100delC NP_001394913.1:p.Pro34Leufs frameshift NM_001407985.1:c.100delC NP_001394914.1:p.Pro34Leufs frameshift NM_001407986.1:c.100delC NP_001394915.1:p.Pro34Leufs frameshift NM_001407990.1:c.100delC NP_001394919.1:p.Pro34Leufs frameshift NM_001407991.1:c.100delC NP_001394920.1:p.Pro34Leufs frameshift NM_001407992.1:c.100delC NP_001394921.1:p.Pro34Leufs frameshift NM_001407993.1:c.100delC NP_001394922.1:p.Pro34Leufs frameshift NM_001408392.1:c.100delC NP_001395321.1:p.Pro34Leufs frameshift NM_001408396.1:c.100delC NP_001395325.1:p.Pro34Leufs frameshift NM_001408397.1:c.100delC NP_001395326.1:p.Pro34Leufs frameshift NM_001408398.1:c.100delC NP_001395327.1:p.Pro34Leufs frameshift NM_001408399.1:c.100delC NP_001395328.1:p.Pro34Leufs frameshift NM_001408400.1:c.100delC NP_001395329.1:p.Pro34Leufs frameshift NM_001408401.1:c.100delC NP_001395330.1:p.Pro34Leufs frameshift NM_001408402.1:c.100delC NP_001395331.1:p.Pro34Leufs frameshift NM_001408403.1:c.100delC NP_001395332.1:p.Pro34Leufs frameshift NM_001408404.1:c.100delC NP_001395333.1:p.Pro34Leufs frameshift NM_001408406.1:c.100delC NP_001395335.1:p.Pro34Leufs frameshift NM_001408407.1:c.100delC NP_001395336.1:p.Pro34Leufs frameshift NM_001408408.1:c.100delC NP_001395337.1:p.Pro34Leufs frameshift NM_001408409.1:c.100delC NP_001395338.1:p.Pro34Leufs frameshift NM_001408410.1:c.-42delC NM_001408411.1:c.100delC NP_001395340.1:p.Pro34Leufs frameshift NM_001408412.1:c.100delC NP_001395341.1:p.Pro34Leufs frameshift NM_001408413.1:c.100delC NP_001395342.1:p.Pro34Leufs frameshift NM_001408414.1:c.100delC NP_001395343.1:p.Pro34Leufs frameshift NM_001408415.1:c.100delC NP_001395344.1:p.Pro34Leufs frameshift NM_001408416.1:c.100delC NP_001395345.1:p.Pro34Leufs frameshift NM_001408418.1:c.100delC NP_001395347.1:p.Pro34Leufs frameshift NM_001408419.1:c.100delC NP_001395348.1:p.Pro34Leufs frameshift NM_001408420.1:c.100delC NP_001395349.1:p.Pro34Leufs frameshift NM_001408421.1:c.100delC NP_001395350.1:p.Pro34Leufs frameshift NM_001408422.1:c.100delC NP_001395351.1:p.Pro34Leufs frameshift NM_001408423.1:c.100delC NP_001395352.1:p.Pro34Leufs frameshift NM_001408424.1:c.100delC NP_001395353.1:p.Pro34Leufs frameshift NM_001408425.1:c.100delC NP_001395354.1:p.Pro34Leufs frameshift NM_001408426.1:c.100delC NP_001395355.1:p.Pro34Leufs frameshift NM_001408427.1:c.100delC NP_001395356.1:p.Pro34Leufs frameshift NM_001408428.1:c.100delC NP_001395357.1:p.Pro34Leufs frameshift NM_001408429.1:c.100delC NP_001395358.1:p.Pro34Leufs frameshift NM_001408430.1:c.100delC NP_001395359.1:p.Pro34Leufs frameshift NM_001408431.1:c.100delC NP_001395360.1:p.Pro34Leufs frameshift NM_001408432.1:c.100delC NP_001395361.1:p.Pro34Leufs frameshift NM_001408433.1:c.100delC NP_001395362.1:p.Pro34Leufs frameshift NM_001408434.1:c.100delC NP_001395363.1:p.Pro34Leufs frameshift NM_001408435.1:c.100delC NP_001395364.1:p.Pro34Leufs frameshift NM_001408436.1:c.100delC NP_001395365.1:p.Pro34Leufs frameshift NM_001408437.1:c.100delC NP_001395366.1:p.Pro34Leufs frameshift NM_001408438.1:c.100delC NP_001395367.1:p.Pro34Leufs frameshift NM_001408439.1:c.100delC NP_001395368.1:p.Pro34Leufs frameshift NM_001408440.1:c.100delC NP_001395369.1:p.Pro34Leufs frameshift NM_001408441.1:c.100delC NP_001395370.1:p.Pro34Leufs frameshift NM_001408442.1:c.100delC NP_001395371.1:p.Pro34Leufs frameshift NM_001408443.1:c.100delC NP_001395372.1:p.Pro34Leufs frameshift NM_001408444.1:c.100delC NP_001395373.1:p.Pro34Leufs frameshift NM_001408445.1:c.100delC NP_001395374.1:p.Pro34Leufs frameshift NM_001408446.1:c.100delC NP_001395375.1:p.Pro34Leufs frameshift NM_001408447.1:c.100delC NP_001395376.1:p.Pro34Leufs frameshift NM_001408448.1:c.100delC NP_001395377.1:p.Pro34Leufs frameshift NM_001408450.1:c.100delC NP_001395379.1:p.Pro34Leufs frameshift NM_001408452.1:c.-42delC NM_001408453.1:c.-42delC NM_001408455.1:c.-158delC NM_001408456.1:c.-158delC NM_001408458.1:c.-42delC NM_001408462.1:c.-42delC NM_001408463.1:c.-42delC NM_001408465.1:c.-162delC NM_001408466.1:c.-42delC NM_001408468.1:c.-158delC NM_001408469.1:c.-42delC NM_001408470.1:c.-42delC NM_001408472.1:c.100delC NP_001395401.1:p.Pro34Leufs frameshift NM_001408473.1:c.100delC NP_001395402.1:p.Pro34Leufs frameshift NM_001408474.1:c.100delC NP_001395403.1:p.Pro34Leufs frameshift NM_001408475.1:c.100delC NP_001395404.1:p.Pro34Leufs frameshift NM_001408476.1:c.100delC NP_001395405.1:p.Pro34Leufs frameshift NM_001408478.1:c.-89delC NM_001408479.1:c.-89delC NM_001408480.1:c.-89delC NM_001408481.1:c.-89delC NM_001408482.1:c.-89delC NM_001408483.1:c.-89delC NM_001408484.1:c.-89delC NM_001408485.1:c.-89delC NM_001408489.1:c.-89delC NM_001408490.1:c.-89delC NM_001408491.1:c.-89delC NM_001408492.1:c.-205delC NM_001408493.1:c.-89delC NM_001408494.1:c.100delC NP_001395423.1:p.Pro34Leufs frameshift NM_001408495.1:c.100delC NP_001395424.1:p.Pro34Leufs frameshift NM_001408497.1:c.-42delC NM_001408499.1:c.-42delC NM_001408500.1:c.-42delC NM_001408501.1:c.-158delC NM_001408502.1:c.-89delC NM_001408503.1:c.-42delC NM_001408504.1:c.-42delC NM_001408505.1:c.-42delC NM_001408506.1:c.-89delC NM_001408507.1:c.-89delC NM_001408508.1:c.-89delC NM_001408509.1:c.-89delC NM_001408510.1:c.-204delC NM_001408512.1:c.-204delC NM_001408513.1:c.-89delC NM_001408514.1:c.-89delC NM_007294.3:c.101delC frameshift NM_007297.4:c.-8+8258del intron variant NM_007298.4:c.100delC NP_009229.2:p.Pro34Leufs frameshift NM_007299.4:c.101del NP_009230.2:p.Pro34fs frameshift NM_007300.4:c.101del NP_009231.2:p.Pro34fs frameshift NM_007304.2:c.100delC NP_009235.2:p.Pro34Leufs frameshift NR_027676.2:n.303del non-coding transcript variant NC_000017.11:g.43115760del NC_000017.10:g.41267777del NG_005905.2:g.102225del LRG_292:g.102225del LRG_292t1:c.100del LRG_292p1:p.Pro34Leufs U14680.1:n.220delC - Protein change
- P34fs
- Other names
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220delC
- Canonical SPDI
- NC_000017.11:43115758:GG:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13041 | 14847 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (2) |
reviewed by expert panel
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Sep 8, 2016 | RCV000111768.4 | |
| Pathogenic (2) |
criteria provided, single submitter
|
Jan 6, 2017 | RCV000496845.2 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Feb 24, 2017 | RCV002362680.2 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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|---|---|---|---|---|---|
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Pathogenic
(Sep 08, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000299404.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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|
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Pathogenic
(Feb 24, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002666312.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.101delC variant, located in coding exon 2 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 101, causing a … (more)
The c.101delC variant, located in coding exon 2 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 101, causing a translational frameshift with a predicted alternate stop codon (p.P34Lfs*16). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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|
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Pathogenic
(Jan 06, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698828.1
First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
Comment:
Variant summary: The BRCA1 c.101delC (p.Pro34Leufs) variant, alternatively also known as 220delC, results in a premature termination codon, predicted to cause a truncated or absent … (more)
Variant summary: The BRCA1 c.101delC (p.Pro34Leufs) variant, alternatively also known as 220delC, results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay (NMD), which is the known disease mechanism in HBOC. If the variant escapes NMD, it is expected to truncate substantial part of RING domain and truncate S-R and BRCT domains (InterPro). Truncations downstream of this position have been classified as pathogenic by our laboratory and others (e.g. p.Gln60X, p.Glu143X, p.Trp1815X, etc.). This variant is absent in 113688 control chromosomes from ExAC. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. It has been reported in at least two HBOC patients by clinical labs in ClinVar. Taken together, this variant is classified as Pathogenic. (less)
|
|
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Pathogenic
(Dec 23, 2003)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144299.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587010.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
Comment:
Comment:
The c.101delC variant, located in coding exon 2 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 101, causing a translational frameshift with a predicted alternate stop codon (p.P34Lfs*16). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Comment:
Variant summary: The BRCA1 c.101delC (p.Pro34Leufs) variant, alternatively also known as 220delC, results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay (NMD), which is the known disease mechanism in HBOC. If the variant escapes NMD, it is expected to truncate substantial part of RING domain and truncate S-R and BRCT domains (InterPro). Truncations downstream of this position have been classified as pathogenic by our laboratory and others (e.g. p.Gln60X, p.Glu143X, p.Trp1815X, etc.). This variant is absent in 113688 control chromosomes from ExAC. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. It has been reported in at least two HBOC patients by clinical labs in ClinVar. Taken together, this variant is classified as Pathogenic.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
The c.101delC variant, located in coding exon 2 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 101, causing a translational frameshift with a predicted alternate stop codon (p.P34Lfs*16). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Comment:
Variant summary: The BRCA1 c.101delC (p.Pro34Leufs) variant, alternatively also known as 220delC, results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay (NMD), which is the known disease mechanism in HBOC. If the variant escapes NMD, it is expected to truncate substantial part of RING domain and truncate S-R and BRCT domains (InterPro). Truncations downstream of this position have been classified as pathogenic by our laboratory and others (e.g. p.Gln60X, p.Glu143X, p.Trp1815X, etc.). This variant is absent in 113688 control chromosomes from ExAC. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. It has been reported in at least two HBOC patients by clinical labs in ClinVar. Taken together, this variant is classified as Pathogenic.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs80357750 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.